|
🐜
|
DNAJC13 mutations in Parkinson disease.
40 auth.
C. Vilariño-Güell,
A. Rajput,
A. Milnerwood,
Brinda Shah,
C. Szu‐Tu,
J. Trinh,
Irene Yu,
M. Encarnacion,
Lise N. Munsie,
L. Tapia,
E. Gustavsson,
Patrick Chou,
Igor Tatarnikov,
Daniel M. Evans,
F. Pishotta,
...
Mattia Volta,
Dayne A Beccano-Kelly,
Christina Thompson,
Michelle K. Lin,
Holly E. Sherman,
Heather Han,
Bruce L. Guenther,
W. Wasserman,
V. Bernard,
C. Ross,
S. Appel-Cresswell,
A. Stoessl,
C. Robinson,
D. Dickson,
O. Ross,
Z. Wszolek,
J. Aasly,
R. Wu,
F. Hentati,
R. Gibson,
P. McPherson,
M. Girard,
M. Rajput,
A. Rajput,
M. Farrer
|
8 |
2014 |
8
🐜
|
|
🐜
|
Exome Sequencing and the Management of Neurometabolic Disorders.
66 auth.
M. Tarailo-Graovac,
M. Tarailo-Graovac,
C. Shyr,
C. Ross,
G. Horvath,
G. Horvath,
R. Salvarinova,
X. Ye,
X. Ye,
Lin Hua Zhang,
Amit P. Bhavsar,
Jessica J. Y. Lee,
Jessica J. Y. Lee,
B. Drögemöller,
B. Drögemöller,
...
Mena Abdelsayed,
M. Alfadhel,
L. Armstrong,
M. Baumgartner,
P. Burda,
M. Connolly,
J. Cameron,
M. Demos,
T. Dewan,
J. Dionne,
A. Evans,
J. Friedman,
I. Garber,
I. Garber,
S. Lewis,
Jiqiang Ling,
R. Mandal,
A. Mattman,
M. McKinnon,
A. Michoulas,
D. Metzger,
O. Ogunbayo,
Bojana Rakić,
J. Rozmus,
P. Ruben,
B. Sayson,
S. Santra,
K. R. Schultz,
K. Selby,
Paul Shekel,
S. Sirrs,
C. Skrypnyk,
A. Superti-Furga,
S. Turvey,
M. V. Allen,
D. Wishart,
Jiang Wu,
John K Wu,
D. Zafeiriou,
L. Kluijtmans,
R. Wevers,
P. Eydoux,
A. Lehman,
H. Vallance,
S. Stockler-Ipsiroglu,
S. Stockler-Ipsiroglu,
G. Sinclair,
W. Wasserman,
W. Wasserman,
C. Karnebeek,
C. Karnebeek
|
8 |
2016 |
8
🐜
|
|
🐜
|
Recommendations for genetic testing to reduce the incidence of anthracycline‐induced cardiotoxicity
13 auth.
F. Aminkeng,
C. Ross,
S. Rassekh,
Soomi Hwang,
M. Rieder,
Amit P. Bhavsar,
Anne Smith,
S. Sanatani,
K. Gelmon,
D. Bernstein,
...
M. Hayden,
U. Amstutz,
B. Carleton
|
7 |
2016 |
7
🐜
|
|
🐜
|
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome
12 auth.
M. Demos,
C. V. van Karnebeek,
C. Ross,
S. Adam,
Yaoqing Shen,
S. Zhan,
...
C. Shyr,
G. Horvath,
M. Suri,
A. Fryer,
Steven J. M. Jones,
J. Friedman
|
7 |
2014 |
7
🐜
|
|
🐜
|
NANS-mediated synthesis of sialic acid is required for brain and skeletal development
46 auth.
C. V. van Karnebeek,
L. Bonafė,
X. Wen,
M. Tarailo-Graovac,
Sara Balzano,
B. Royer-Bertrand,
A. Ashikov,
L. Garavelli,
I. Mammi,
L. Turolla,
C. Breen,
D. Donnai,
V. Cormier-Daire,
D. Heron,
G. Nishimura,
...
Shinichi Uchikawa,
Belinda Campos-Xavier,
A. Rossi,
T. Hennet,
Koroboshka Brand-Arzamendi,
J. Rozmus,
K. Harshman,
Brian J. Stevenson,
E. Girardi,
G. Superti-Furga,
T. Dewan,
A. Collingridge,
Jessie Halparin,
C. Ross,
M. V. Van Allen,
A. Rossi,
U. Engelke,
L. Kluijtmans,
E. van der Heeft,
H. Renkema,
A. D. de Brouwer,
Karin Huijben,
Fokje S M Zijlstra,
T. Heise,
T. Boltje,
W. Wasserman,
C. Rivolta,
S. Unger,
D. Lefeber,
R. Wevers,
A. Superti-Furga
|
7 |
2016 |
7
🐜
|
|
🐜
|
Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease.
19 auth.
Galen E. B. Wright,
J. Collins,
C. Kay,
Cassandra L. McDonald,
E. Dolzhenko,
Q. Xia,
K. Bečanović,
B. Drögemöller,
A. Semaka,
Charlotte M. Nguyen,
...
B. Trost,
F. Richards,
E. Bijlsma,
F. Squitieri,
C. Ross,
S. Scherer,
M. Eberle,
R. Yuen,
M. Hayden
|
7 |
2019 |
7
🐜
|
|
🐜
|
Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.
26 auth.
C. V. van Karnebeek,
W. Sly,
C. Ross,
R. Salvarinova,
J. Yaplito-Lee,
S. Santra,
C. Shyr,
G. Horvath,
P. Eydoux,
A. Lehman,
V. Bernard,
T. Newlove,
H. Ukpeh,
A. Chakrapani,
M. Preece,
...
S. Ball,
J. Pitt,
H. Vallance,
M. Coulter-Mackie,
Hien P. Nguyen,
Linhua Zhang,
Amit P. Bhavsar,
G. Sinclair,
A. Waheed,
W. Wasserman,
S. Stockler-Ipsiroglu
|
6 |
2014 |
6
🐜
|
|
🐜
|
Paediatric cardio-oncology: epidemiology, screening, prevention, and treatment
11 auth.
E. Chow,
K. Leger,
N. Bhatt,
D. Mulrooney,
C. Ross,
S. Aggarwal,
...
N. Bansal,
M. Ehrhardt,
S. Armenian,
Jessica M. Scott,
B. Hong
|
6 |
2019 |
6
🐜
|
|
🐜
|
Nuclear Receptor NR1H3 in Familial Multiple Sclerosis
15 auth.
Zhe Wang,
A. D. Sadovnick,
A. Traboulsee,
J. Ross,
C. Q. Bernales,
M. Encarnacion,
I. Yee,
Madonna de Lemos,
Talitha Greenwood,
Joshua D. Lee,
...
Galen E. B. Wright,
C. Ross,
Si Zhang,
Weihong Song,
C. Vilariño-Güell
|
6 |
2016 |
6
🐜
|
|
🐜
|
The genotypic and phenotypic spectrum of PIGA deficiency
15 auth.
M. Tarailo-Graovac,
G. Sinclair,
S. Stockler-Ipsiroglu,
M. V. Van Allen,
J. Rozmus,
C. Shyr,
R. Biancheri,
T. Oh,
B. Sayson,
Mirafe Lafek,
...
C. Ross,
W. Robinson,
W. Wasserman,
A. Rossi,
C. V. van Karnebeek
|
6 |
2015 |
6
🐜
|
